Author: "S Cutillo" / Journal: blood - Searchworks@Jio Institute Digital Library Search Results

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Author: E. Miraglia del Giudice, L. Pinto, N Alloisio, J. Delaunay, Silverio Perrotta, S Cutillo, Achille Iolascon, and G Sciarratta
Subjects: Proband, Genetics, Mutation, Hereditary elliptocytosis, Immunology, Alpha (ethology), Cell Biology, Hematology, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Biochemistry, Elliptocytosis, Exon, medicine, Spectrin, Allele
Abstract: We report a new mutation responsible for nonhemolytic hereditary elliptocytosis (HE). The proband displayed an impaired spectrin self- association and an increase of the alpha I 74-kD fragment (alpha I/74 abnormality). The responsible mutation occurred in exon 2 of spectrin alpha-gene: alpha 34 Arg-->Trp (CGG-->TGG), defining spectrin Genova. In Trans to allele alpha Genova, the proband disclosed allele alpha LELY, a common low-expression allele of spectrin alpha-gene. It was recognized through particular peptide maps as well as characteristic mutations in exon 40 and intron 45, respectively. The father, who carried allele alpha Genova, but not allele alpha LELY, had a milder presentation. The sensitization of allele alpha Genova by allele alpha LELY was noticeable in the proband as compared with his father. Nevertheless, it was not as sharp as that observed with many other alpha I/74 HE alleles. Therefore, each alpha I/74 HE allele has a distinct intrinsic severity.
Published: 1994
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Author: Perrotta S, Polito F, Cone ML, Nobili B, Cutillo S, Nigro V, Iolascon A, and Amendola G
Subjects: Child, Humans, Italy, Polymorphism, Single-Stranded Conformational, RNA, Messenger analysis, Reverse Transcriptase Polymerase Chain Reaction, Anion Exchange Protein 1, Erythrocyte genetics, Frameshift Mutation, Spherocytosis, Hereditary genetics
Published: 1999

Author: Perrotta S, Miraglia del Giudice E, Alloisio N, Sciarratta G, Pinto L, Delaunay J, Cutillo S, and Iolascon A
Subjects: Alleles, Base Sequence, Child, Female, Humans, Male, Molecular Sequence Data, Elliptocytosis, Hereditary genetics, Mutation, Spectrin genetics
Abstract: We report a new mutation responsible for nonhemolytic hereditary elliptocytosis (HE). The proband displayed an impaired spectrin self-association and an increase of the alpha I 74-kD fragment (alpha I/74 abnormality). The responsible mutation occurred in exon 2 of spectrin alpha-gene: alpha 34 Arg-->Trp (CGG-->TGG), defining spectrin Genova. In Trans to allele alpha Genova, the proband disclosed allele alpha LELY, a common low-expression allele of spectrin alpha-gene. It was recognized through particular peptide maps as well as characteristic mutations in exon 40 and intron 45, respectively. The father, who carried allele alpha Genova, but not allele alpha LELY, had a milder presentation. The sensitization of allele alpha Genova by allele alpha LELY was noticeable in the proband as compared with his father. Nevertheless, it was not as sharp as that observed with many other alpha I/74 HE alleles. Therefore, each alpha I/74 HE allele has a distinct intrinsic severity.
Published: 1994

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